Genomics as a probe for disease biology.

The use of genomic techniques has led to insights into the pathobiology of both common and uncommon diseases. This last installment in the Genomic Medicine series provides a number of examples of the ways in which genomics has served as a probe for disease biology.

[1]  J. Hirschhorn,et al.  A comprehensive review of genetic association studies , 2002, Genetics in Medicine.

[2]  J. Britton.  Effects of social class, sex, and region of residence on age at death from cystic fibrosis. , 1989, BMJ.

[3]  M. Schwartz,et al.  Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. , 1999, The Journal of clinical investigation.

[4]  T. Niu,et al.  Association of Asthma with β2-Adrenergic Receptor Gene Polymorphism and Cigarette Smoking , 2001 .

[5]  S. Chen,et al.  Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. , 1992, Chest.

[6]  D. Valle,et al.  Genetics, biology and disease. , 2000, Annual review of genomics and human genetics.

[7]  L. Palmer,et al.  Pharmacogenetics of asthma. , 2002, American journal of respiratory and critical care medicine.

[8]  C. Weinberg,et al.  Reporting, appraising, and integrating data on genotype prevalence and gene-disease associations. , 2002, American journal of epidemiology.

[9]  W. Cookson.  Asthma genetics. , 2002, Chest.

[10]  Steuart Rorke,et al.  Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness , 2002, Nature.

[11]  S. Weiss,et al.  Association studies in asthma genetics. , 2001, American journal of respiratory and critical care medicine.

[12]  A. Kassner,et al.  Absence of health insurance is associated with decreased life expectancy in patients with cystic fibrosis. , 1997, American journal of respiratory and critical care medicine.

[13]  Koppelman,et al.  Definition of asthma: possible approaches in genetic studies , 1998, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

[14]  J. Renauld.  New insights into the role of cytokines in asthma , 2001, Journal of clinical pathology.

[15]  A. Sali,et al.  Structural genomics: beyond the Human Genome Project , 1999, Nature Genetics.

[16]  D. W. Johnson,et al.  Mutations in the activin receptor–like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2 , 1996, Nature Genetics.

[17]  S. Liggett.  Polymorphisms of the beta2-adrenergic receptor and asthma. , 1997, American journal of respiratory and critical care medicine.

[18]  S. Shapiro,et al.  ADAM-33 surfaces as an asthma gene. , 2002, The New England journal of medicine.

[19]  M. Braekeleer,et al.  Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation , 1997, Human Genetics.

[20]  Francis S. Collins,et al.  Genomic medicine--a primer. , 2002, The New England journal of medicine.

[21]  E. McCabe,et al.  Modifier genes convert "simple" Mendelian disorders to complex traits. , 2000, Molecular genetics and metabolism.

[22]  A. Guttmacher,et al.  Hereditary hemorrhagic telangiectasia. , 1995, The New England journal of medicine.

[23]  M. Knowles,et al.  'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations , 2001, Respiratory research.

[24]  C. Boeck.  Correlation between genotype and phenotype in patients with cystic fibrosis , 1993 .

[25]  Xiping Xu,et al.  Ascaris lumbricoides infection is associated with increased risk of childhood asthma and atopy in rural China. , 2002, American journal of respiratory and critical care medicine.

[26]  Andrew P. Weir,et al.  Function and genetics of dystrophin and dystrophin-related proteins in muscle. , 2002, Physiological reviews.

[27]  D. Postma,et al.  Defining asthma in genetic studies. , 1999, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

[28]  M. Hodson,et al.  Independent genetic determinants of pancreatic and pulmonary status in cystic fibrosis , 1990, The Lancet.

[29]  A. Ashley-Koch,et al.  Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review. , 2000, American journal of epidemiology.

[30]  L. Tsui,et al.  Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor , 1996, Nature Genetics.

[31]  Francesco Salvatore,et al.  Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. , 2002, American journal of medical genetics.

[32]  J. Ioannidis,et al.  Replication validity of genetic association studies , 2001, Nature Genetics.

[33]  Howard L McLeod,et al.  Pharmacogenomics--drug disposition, drug targets, and side effects. , 2003, The New England journal of medicine.

[34]  T. Dörk,et al.  Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens , 1997, Human Genetics.

[35]  Burkhard Tümmler,et al.  Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs , 2002, Human Genetics.

[36]  H. Hakonarson,et al.  Current concepts on the genetics of asthma , 2001, Current opinion in pediatrics.

[37]  B. Kerem,et al.  Correlation between genotype and phenotype in patients with cystic fibrosis. , 1994, The New England journal of medicine.

[38]  A. V. D. van den Ouweland,et al.  A cystic fibrosis mutation associated with mild lung disease. , 1995, The New England journal of medicine.

[39]  S. Liggett.  Polymorphisms of the β2-Adrenergic Receptor and Asthma , 1997 .

[40]  A. Beggs.  Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. , 1997, Circulation.

[41]  D. Mannino,et al.  Surveillance for asthma--United States, 1980-1999. , 2002, Morbidity and mortality weekly report. Surveillance summaries.

[42]  F. Martinez,et al.  Interactions between genes and environment in the development
of asthma , 2001, Allergy.

[43]  Alison Abbott,et al.  A post-genomic challenge: learning to read patterns of protein synthesis , 1999, Nature.

[44]  J. V. Moran,et al.  Initial sequencing and analysis of the human genome. , 2001, Nature.

[45]  J. Ayres.  Severe asthma phenotypes: The case for more specificity , 2001, Journal of the Royal Society of Medicine.

[46]  G. Cutting,et al.  Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. , 1998, Clinics in chest medicine.

[47]  R. Parker,et al.  Association of poor clinical status and heavy exposure to tobacco smoke in patients with cystic fibrosis who are homozygous for the F508 deletion. , 1992, The Journal of pediatrics.

[48]  W. Ledger,et al.  Influence of interleukin-1 receptor antagonist gene polymorphism on disease. , 2002, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

[49]  M. Corey,et al.  Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 , 1999, Nature Genetics.

[50]  D. W. Johnson,et al.  Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 , 1994, Nature Genetics.

[51]  M. Ferrari,et al.  Genotype-phenotype correlation in cystic fibrosis patients. , 1996, Annales de biologie clinique.

[52]  F. Collins,et al.  Shattuck lecture--medical and societal consequences of the Human Genome Project. , 1999, The New England journal of medicine.

[53]  A. Fryer,et al.  Polymorphisms at the glutathione S‐transferase, GSTP1 locus: a novel mechanism for susceptibility and development of atopic airway inflammation , 2000, Allergy.

[54]  J. Zieleński.  Genotype and Phenotype in Cystic Fibrosis , 2000, Respiration.

[55]  R. Weinshilboum.  Inheritance and drug response. , 2003, The New England journal of medicine.

[56]  G. Bray,et al.  Relationship between Factor VIII Mutation Type and Inhibitor Development in a Cohort of Previously Untreated Patients Treated with Recombinant Factor VIII (Recombinate™) , 2000, Thrombosis and Haemostasis.

[57]  M J Khoury,et al.  The future of genetic studies of complex human diseases: an epidemiologic perspective. , 1998, Epidemiology.

[58]  L. Palmer,et al.  Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma , 2001, Respiratory research.